Валеология: Здоровье, Болезнь, Выздоровление. 2020; : 19-26
ИШЕМИЧЕСКИЙ ИНСУЛЬТ У МОЛОДЫХ
Аннотация
В статье представлены современные данные генетически детерминированных причин ишемического инсульта, специфические факторы риска, рассмотрены особенности клинических проявлений, а также диагностические нейровизуализационные характеристики очагового поражения головного мозга у пациентов молодого возраста.
Список литературы
1. Фирсов К. В. Генетически детерминированные причины инсульта у молодых пациентов / К. В. Фирсов, А. С. Котов, М. С. Бунак // Журнал неврологии и психиатрии им. С. С. Корсакова. – 2019. – 119 (1): 102-109.
2. Котов С. В. Инсульт: Руководство для врачей / С. В. Котов [и др.] / Под ред. Стаховской Л. В., Котова С. В. – М., 2014.
3. Санду Е. А. Анализ эффективности программы «Оценка риска инсульта» для выявления лиц с высоким риском инсульта / Е. А. Санду [и др.] // Клиническая геронтология. – 2016. – 22 (5-6): 10-17.
4. Poisson S. N., Schardt T. Q., Dingman A., Bernard T. J. Etiology and treatment of arterial ischemic stroke in children and young adults. Curr Treat Options Neurol. 2014; 16 (10) : 315.
5. El-Hattab A. W., Emrick L. T., Hsu J. W., Chanprasert S., Almannai M., Craigen W. J., Jahoor F., Scaglia F. Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation. Mol Genet Metab. 2016; 117 (4) : 407-412.
6. Kaufmann P., Shungu D. C., Sano M. C., Jhung S., Engelstad K., Mitsis E., Mao X., Shanske S., Hirano M., Di Mauro S., De Vivo D. C.. Cerebral lactic acidosis correlates with neurological impairment in MELAS. Neurology. 2004; 62 : 1297-1302.
7. El-Hattab A. W., Adesina A. M., Jones J., Scaglia F. MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options. Mol Genet Metab. 2015; 116 (1-2) : 4-12.
8. Karppa M., Syrajala P., Tolonen U., Majamaa K. Peripheral neuropathy in patients with the 3243A. J Neurol. 2003; 250 : 216-221.
9. Iizuka T., Sakai F., Kan S., Suzuki N. Slowly progressive spread of the stroke-like lesions in MELAS. Neurology. 2003; 61 : 1238-1244.
10. Lee H. N., Eom S., Kim S. H., Kang H. C., Lee J. S., Kim H. D., Lee Y. M. Epilepsy Characteristics and Clinical Outcome in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS). Pediatr Neurol. 2016; S0887-8994 (16) : 30416-7.
11. Ichikawa H. Higher Brain Dysfunction in Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS). Brain Nerve. 2016; 68 (2) : 151-157.
12. Shi Y. H., Zhao J. H., Song J. L., Li Y. J., Liang K. Analysis on clinical features and functional MRI of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes. Zhonghua Yi Xue Za Zhi. 2016; 96 (37) : 2969-2972.
13. Marie S. K. N., Goto Y., Passos-Bueno M. R., Zatz M., Carvalho A. A. S., Carvalho M., Levy J. A., Palou V. B., Campiotto S., Horai S., Nonaka I. A Caucasian family with the 3271 mutation in mitochondrial DNA. Biochem Med Metab Biol. 1994; 52 : 136-139.
14. Wang Y. X., Le W. D. Progress in Diagnosing Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episodes. Chin Med J (Engl). 2015; 128 (13) : 1820-1825.
15. Koenig M. K., Emrick L., Karaa A., Korson M., Scaglia F., Parikh S., Goldstein A. Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis and Strokelike Episodes. JAMA. Neurol. 2016; 73 (5) : 591-594.
16. Finsterer J., Wakil S. M. Stroke-like episodes, peri-episodic seizures, and MELAS mutations. Eur J Paediatr Neurol. 2016; 20 (6) : 824-829.
17. Zhu S., Nahas S. J. CADASIL: Imaging Characteristics and Clinical Correlation. Curr Pain Headache Rep. 2016; 20 (10) : 57.
18. Kang H. G., Kim J. S. Intracranial arterial disease in CADASIL patients. J Neurol Sci. 2015; 359 (1-2) : 347-350.
19. Tan R. Y., Markus H. S. CADASIL: Migraine, Encephalopathy, Stroke and Their Inter-Relationships. PLoS One. 2016; 11 (6) : e0157613.
20. Pradotto L., Orsi L., Mencarelli M., Caglio M., Lauro D., Milesi A., Di Blasio A., Mauro A. Recurrent transient global amnesia as presenting symptoms of CADASIL. Clin Case Rep. 2016; 4 (11) : 1045-1048.
21. Joshi S., Yau W., Kermode A.. CADASIL mimicking multiple sclerosis: The importance of clinical and MRI red flags. J Clin Neurosci. 2016;5867-5868 (16) : 30202-8.
22. Samões R., Alves J. E., Taipa R., Silva J., Melo Pires M., Pereira-Monteiro J. M. CADASIL: MRI may be normal in the fourth decade of life - a case report. Cephalalgia. 2016; 36 (11) : 1082-1085.
23. Tamaki K., Fukae J., Koga K., Nagatoshi A., Ueda A., Ouma S., Ando Y., Tsuboi Y. Skin biopsy is a useful tool for the diagnosis of atypical CADASIL: A Case Report. Brain Nerve. 2015; 67 (12) : 1533-1537.
24. Khan M. T., Murray A., Smith M. Successful Use of Intravenous Tissue Plasminogen Activator as Treatment for a Patient with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy: a case report and review of literature. J Stroke Cerebrovasc Dis. 2016; 25 (4) : 53-57.
25. Jazi A. N., Shebak S. S., Tingler W. L. Managing Depression in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL): a case report. Prim Care Companion CNS Disord. 2016; 18 : 4.
26. Tuttolomondo A., Pecoraro R., Simonetta I., Miceli S., Arnao V., Licata G., Pinto A. Neurological complications of Anderson-Fabry disease. Curr Pharm Des. 2013; 19 (33) : 6014-6030.
27. Ginsberg L. Nervous system manifestations of Fabry disease: data from FOS — the Fabry outcome survey. In: Mehta A., Beck M., Sunder-Plassmann G., editors. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford Pharma Genesis; 2006.
28. Cormican M. T., Paschalis T., Viers A., Alleyne C. H. Jr. Unusual case of subarachnoid haemorrhage in patient with Fabry’s disease: case report and literature review. BMJ Case Rep. 2012.
29. Clavelou P., Besson G. Neurological aspects of Fabry disease. Presse Med.2007; 36 (1) : 65-68.
30. Фирсов К. В. Неврологические проявления при болезни Фабри / К. В. Фирсов, А. С. Котов // Журнал неврологии и психиатрии им. C. C. Корсакова. – 2016. – 116 (9) : 98-105.
31. Shi Q., Chen J., Pongmoragot J., Lanthier S., Saposnik G. Prevalence of Fabry disease in stroke patients - a systematic review and meta-analysis. J. Stroke Cerebrovasc Dis. 2014; 23 (5) : 985-992.
32. Viana-Baptista M. Stroke and Fabry disease. J Neurol. 2012; 259 (6) : 1019-1028.
33. Sivley M. D. Fabry disease: a review of ophthalmic and systemic manifestations. Optom Vis Sci. 2013; 90 (2) : 63-78.
34. Sodi A., Ioannidis A., Pitz S. Ophthalmological manifestations of Fabry disease. In: Mehta A., Beck M., Sunder-Plassmann G., editors. Fabry disease: perspectives from 5 years of FOS. Oxford: Oxford PharmaGenesis; 2006.
35. Giuseppe P., Daniele R., Rita B. M. Cutaneous complications of Anderson-Fabry disease. Curr Pharm Des. 2013; 19 (33) : 6031-6036.
36. Van der Tol L. et. Chronic kidney disease and an uncertain diagnosis of Fabry disease: approach to a correct diagnosis. Mol Genet Metab. 2015; 114 (2) : 242-247.
37. Thomas A. S., Hughes D. A. Fabry disease. Pediatr Endocrinol Rev. 2014; 12 (suppl 1) : 88-101.
38. El Dib R. P., Nascimento P., Pastores G. M. Enzyme replacement therapy for Anderson-Fabry disease. Cochrane Database Syst Rev. 2013; 2 : CD006663.
39. Lenders M., Karabul N., Duning T., Schmitz B., Schelleckes M., Mesters R., Hense H. W., Beck M., Brand S. M., Brand E. Thromboembolic events in Fabry disease and the impact of factor V Leiden. Neurology. 2015; 84 (10) : 1009-1016.
40. Baron-Menguy C., Domenga-Denier V., Ghezali L., Faraci F. M., Joutel A. Increased Notch 3 activity mediates pathological changes in structure of cerebral Arteries. Hypertension. 2017; 69 (1) : 60-70.
41. Karlsson W. K., Sørensen C. G., Kruuse C. L-arginine and L-NMMA for Assessing Cerebral Endothelial Dysfunction in Ischemic Cerebrovascular Disease: A Systematic Review. Clin Exp Pharmacol Physiol. 2016.
42. Khan S. Antiphospholipid syndrome is an important modifiable risk factor of stroke in the young. Ann Indian Acad Neurol. 2015; 18 (3) : 359-360.
43. Berkun Y., Simchen M. J., Strauss T., Menashcu S., Padeh S., Kenet G. Antiphospholipid antibodies in neonates with stroke — a unique entity or variant of antiphospholipid syndrome? Lupus. 2014; 23 (10) : 986-993.
Valeology: Health - Illnes - recovery. 2020; : 19-26
ISCHEMIC STROKE IN YOUNG
Abstract
The article presents modern data on the genetically determined causes of ischemic stroke, specific risk factors, considers the features of clinical manifestations, as well as the diagnostic neuroimaging characteristics of focal brain damage in young patients.
References
1. Firsov K. V. Geneticheski determinirovannye prichiny insul'ta u molodykh patsientov / K. V. Firsov, A. S. Kotov, M. S. Bunak // Zhurnal nevrologii i psikhiatrii im. S. S. Korsakova. – 2019. – 119 (1): 102-109.
2. Kotov S. V. Insul't: Rukovodstvo dlya vrachei / S. V. Kotov [i dr.] / Pod red. Stakhovskoi L. V., Kotova S. V. – M., 2014.
3. Sandu E. A. Analiz effektivnosti programmy «Otsenka riska insul'ta» dlya vyyavleniya lits s vysokim riskom insul'ta / E. A. Sandu [i dr.] // Klinicheskaya gerontologiya. – 2016. – 22 (5-6): 10-17.
4. Poisson S. N., Schardt T. Q., Dingman A., Bernard T. J. Etiology and treatment of arterial ischemic stroke in children and young adults. Curr Treat Options Neurol. 2014; 16 (10) : 315.
5. El-Hattab A. W., Emrick L. T., Hsu J. W., Chanprasert S., Almannai M., Craigen W. J., Jahoor F., Scaglia F. Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation. Mol Genet Metab. 2016; 117 (4) : 407-412.
6. Kaufmann P., Shungu D. C., Sano M. C., Jhung S., Engelstad K., Mitsis E., Mao X., Shanske S., Hirano M., Di Mauro S., De Vivo D. C.. Cerebral lactic acidosis correlates with neurological impairment in MELAS. Neurology. 2004; 62 : 1297-1302.
7. El-Hattab A. W., Adesina A. M., Jones J., Scaglia F. MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options. Mol Genet Metab. 2015; 116 (1-2) : 4-12.
8. Karppa M., Syrajala P., Tolonen U., Majamaa K. Peripheral neuropathy in patients with the 3243A. J Neurol. 2003; 250 : 216-221.
9. Iizuka T., Sakai F., Kan S., Suzuki N. Slowly progressive spread of the stroke-like lesions in MELAS. Neurology. 2003; 61 : 1238-1244.
10. Lee H. N., Eom S., Kim S. H., Kang H. C., Lee J. S., Kim H. D., Lee Y. M. Epilepsy Characteristics and Clinical Outcome in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS). Pediatr Neurol. 2016; S0887-8994 (16) : 30416-7.
11. Ichikawa H. Higher Brain Dysfunction in Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS). Brain Nerve. 2016; 68 (2) : 151-157.
12. Shi Y. H., Zhao J. H., Song J. L., Li Y. J., Liang K. Analysis on clinical features and functional MRI of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes. Zhonghua Yi Xue Za Zhi. 2016; 96 (37) : 2969-2972.
13. Marie S. K. N., Goto Y., Passos-Bueno M. R., Zatz M., Carvalho A. A. S., Carvalho M., Levy J. A., Palou V. B., Campiotto S., Horai S., Nonaka I. A Caucasian family with the 3271 mutation in mitochondrial DNA. Biochem Med Metab Biol. 1994; 52 : 136-139.
14. Wang Y. X., Le W. D. Progress in Diagnosing Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episodes. Chin Med J (Engl). 2015; 128 (13) : 1820-1825.
15. Koenig M. K., Emrick L., Karaa A., Korson M., Scaglia F., Parikh S., Goldstein A. Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis and Strokelike Episodes. JAMA. Neurol. 2016; 73 (5) : 591-594.
16. Finsterer J., Wakil S. M. Stroke-like episodes, peri-episodic seizures, and MELAS mutations. Eur J Paediatr Neurol. 2016; 20 (6) : 824-829.
17. Zhu S., Nahas S. J. CADASIL: Imaging Characteristics and Clinical Correlation. Curr Pain Headache Rep. 2016; 20 (10) : 57.
18. Kang H. G., Kim J. S. Intracranial arterial disease in CADASIL patients. J Neurol Sci. 2015; 359 (1-2) : 347-350.
19. Tan R. Y., Markus H. S. CADASIL: Migraine, Encephalopathy, Stroke and Their Inter-Relationships. PLoS One. 2016; 11 (6) : e0157613.
20. Pradotto L., Orsi L., Mencarelli M., Caglio M., Lauro D., Milesi A., Di Blasio A., Mauro A. Recurrent transient global amnesia as presenting symptoms of CADASIL. Clin Case Rep. 2016; 4 (11) : 1045-1048.
21. Joshi S., Yau W., Kermode A.. CADASIL mimicking multiple sclerosis: The importance of clinical and MRI red flags. J Clin Neurosci. 2016;5867-5868 (16) : 30202-8.
22. Samões R., Alves J. E., Taipa R., Silva J., Melo Pires M., Pereira-Monteiro J. M. CADASIL: MRI may be normal in the fourth decade of life - a case report. Cephalalgia. 2016; 36 (11) : 1082-1085.
23. Tamaki K., Fukae J., Koga K., Nagatoshi A., Ueda A., Ouma S., Ando Y., Tsuboi Y. Skin biopsy is a useful tool for the diagnosis of atypical CADASIL: A Case Report. Brain Nerve. 2015; 67 (12) : 1533-1537.
24. Khan M. T., Murray A., Smith M. Successful Use of Intravenous Tissue Plasminogen Activator as Treatment for a Patient with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy: a case report and review of literature. J Stroke Cerebrovasc Dis. 2016; 25 (4) : 53-57.
25. Jazi A. N., Shebak S. S., Tingler W. L. Managing Depression in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL): a case report. Prim Care Companion CNS Disord. 2016; 18 : 4.
26. Tuttolomondo A., Pecoraro R., Simonetta I., Miceli S., Arnao V., Licata G., Pinto A. Neurological complications of Anderson-Fabry disease. Curr Pharm Des. 2013; 19 (33) : 6014-6030.
27. Ginsberg L. Nervous system manifestations of Fabry disease: data from FOS — the Fabry outcome survey. In: Mehta A., Beck M., Sunder-Plassmann G., editors. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford Pharma Genesis; 2006.
28. Cormican M. T., Paschalis T., Viers A., Alleyne C. H. Jr. Unusual case of subarachnoid haemorrhage in patient with Fabry’s disease: case report and literature review. BMJ Case Rep. 2012.
29. Clavelou P., Besson G. Neurological aspects of Fabry disease. Presse Med.2007; 36 (1) : 65-68.
30. Firsov K. V. Nevrologicheskie proyavleniya pri bolezni Fabri / K. V. Firsov, A. S. Kotov // Zhurnal nevrologii i psikhiatrii im. C. C. Korsakova. – 2016. – 116 (9) : 98-105.
31. Shi Q., Chen J., Pongmoragot J., Lanthier S., Saposnik G. Prevalence of Fabry disease in stroke patients - a systematic review and meta-analysis. J. Stroke Cerebrovasc Dis. 2014; 23 (5) : 985-992.
32. Viana-Baptista M. Stroke and Fabry disease. J Neurol. 2012; 259 (6) : 1019-1028.
33. Sivley M. D. Fabry disease: a review of ophthalmic and systemic manifestations. Optom Vis Sci. 2013; 90 (2) : 63-78.
34. Sodi A., Ioannidis A., Pitz S. Ophthalmological manifestations of Fabry disease. In: Mehta A., Beck M., Sunder-Plassmann G., editors. Fabry disease: perspectives from 5 years of FOS. Oxford: Oxford PharmaGenesis; 2006.
35. Giuseppe P., Daniele R., Rita B. M. Cutaneous complications of Anderson-Fabry disease. Curr Pharm Des. 2013; 19 (33) : 6031-6036.
36. Van der Tol L. et. Chronic kidney disease and an uncertain diagnosis of Fabry disease: approach to a correct diagnosis. Mol Genet Metab. 2015; 114 (2) : 242-247.
37. Thomas A. S., Hughes D. A. Fabry disease. Pediatr Endocrinol Rev. 2014; 12 (suppl 1) : 88-101.
38. El Dib R. P., Nascimento P., Pastores G. M. Enzyme replacement therapy for Anderson-Fabry disease. Cochrane Database Syst Rev. 2013; 2 : CD006663.
39. Lenders M., Karabul N., Duning T., Schmitz B., Schelleckes M., Mesters R., Hense H. W., Beck M., Brand S. M., Brand E. Thromboembolic events in Fabry disease and the impact of factor V Leiden. Neurology. 2015; 84 (10) : 1009-1016.
40. Baron-Menguy C., Domenga-Denier V., Ghezali L., Faraci F. M., Joutel A. Increased Notch 3 activity mediates pathological changes in structure of cerebral Arteries. Hypertension. 2017; 69 (1) : 60-70.
41. Karlsson W. K., Sørensen C. G., Kruuse C. L-arginine and L-NMMA for Assessing Cerebral Endothelial Dysfunction in Ischemic Cerebrovascular Disease: A Systematic Review. Clin Exp Pharmacol Physiol. 2016.
42. Khan S. Antiphospholipid syndrome is an important modifiable risk factor of stroke in the young. Ann Indian Acad Neurol. 2015; 18 (3) : 359-360.
43. Berkun Y., Simchen M. J., Strauss T., Menashcu S., Padeh S., Kenet G. Antiphospholipid antibodies in neonates with stroke — a unique entity or variant of antiphospholipid syndrome? Lupus. 2014; 23 (10) : 986-993.
